TPI1:Ensemblv115

triosephosphate isomerase 1
OMIM: 190450, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TPI1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)

Green TPI1 in Red cell disorders


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • North West GLH
  • Wessex and West Midlands GLH
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Green
Phenotypes
  • Haemolytic anaemia due to triosephosphate isomerase deficiency MIM# 615512
  • chronic haemolytic anaemia
  • neuromuscular dysfunction
  • intracellular accumulation of dihydroxyacetone phosphate (DHAP)

Green TPI1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Haemolytic anaemia due to triosephosphate isomerase deficiency MIM#615512